Nutritional and Metabolic Assessment for Neuromuscular Patients
Research type
Research Study
Full title
Longitudinal study of growth patterns, body composition, energy expenditure and dietary intake in children with Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD)
IRAS ID
261958
Contact name
Giovanni Baranello
Contact email
Sponsor organisation
UCL GOS Institute of Child Health
Duration of Study in the UK
2 years, 11 months, 30 days
Research summary
This research study seeks to collect longitudinal data on growth patterns, body composition, dietary intake and energy expenditure in a large cohort (approximately 250 patients) of patients with Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD). Both children with SMA and DMD are at risk of altered nutritional status. The severe decrement in physical activity due to the neuromuscular defect reduces energy needs and increases the risk of overweight and obesity; on the other hand, respiratory, bulbar and gastrointestinal problems lead to failure to thrive and underweight by increasing respiratory workload and reducing food intake. The use of some drugs, as it is the case of chronic treatment with corticosteroids in DMD patients, can also alter nutritional status leading to overweight. Proper nutritional management is essential for these patients because body composition can significantly affect their functional status and ultimately their quality of life. There is also a lack of consensus on the appropriate nutritional management to prevent over- or underweight and relative co-morbidities in SMA and DMD.
Patients <18 years with a genetically confirmed diagnosis of SMA or DMD will be eligible for the study. They will recruited at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital. At baseline and every six or twelve months up to two years, the following data will be collected: general clinical data, nutritional status and body composition, gastrointestinal symptoms, resting energy expenditure and food intake. The total study duration is three years.
We also plan a sub-study on lipid profile in SMA patients treated with Nusinersen. As Nusinersen is delivered intrathecally we will investigate if it impacts peripheral defects such as fatty acid metabolism abnormalities and dyslipidemia. We will undertake lipid profiling of samples from SMA patients treated with nusinersen and compare them to the previously published results in untreated patients.
REC name
London - Hampstead Research Ethics Committee
REC reference
21/LO/0147
Date of REC Opinion
7 Apr 2021
REC opinion
Further Information Favourable Opinion